Details of Disease

General Information of Disease (ID: DIS2MS2B)

Disease Name Spondylometaphyseal dysplasia, 'corner fracture' type
Synonyms
Sutcliffe type of spondylometaphyseal dysplasia; spondylometaphyseal dysplasia, corner fracture type; spondylometaphyseal dysplasia Sutcliffe type; SMDCF; Sutcliffe SmD; spondylometaphyseal dysplasia corner fracture type; spondylometaphyseal dysplasia, Sutcliffe type
Definition
A type of skeletal dysplasia associated with short stature, developmental coxa vara, progressive hip deformity, simulated 'corner fractures' of long tubular bones and vertebral body abnormalities (mostly oval vertebral bodies).
Disease Hierarchy
DISDTAJK: Spondylometaphyseal dysplasia
DIS8WIDY: Type 2 collagenopathy
DIS2MS2B: Spondylometaphyseal dysplasia, 'corner fracture' type
Disease Identifiers
MONDO ID
MONDO_0008479
MESH ID
C535793
UMLS CUI
C0432221
OMIM ID
184255
MedGen ID
98146
Orphanet ID
93315
SNOMED CT ID
254078005

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
FN1 TTPJ921 Limited Biomarker [1]
FN1 TTPJ921 Definitive Autosomal dominant [2]
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This Disease Is Related to 2 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
COL2A1 OT5E59C8 Strong Genetic Variation [3]
FN1 OTB5ZN4Q Definitive Autosomal dominant [2]
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References

1 Novel fibronectin mutations and expansion of the phenotype in spondylometaphyseal dysplasia with "corner fractures".Bone. 2019 Apr;121:163-171. doi: 10.1016/j.bone.2018.12.020. Epub 2018 Dec 30.
2 Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.
3 COL2A1-related skeletal dysplasias with predominant metaphyseal involvement.Am J Med Genet A. 2007 Jan 15;143A(2):161-7. doi: 10.1002/ajmg.a.31516.